Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CMTR1 23070 broad.mit.edu 37 6 37446287 37446287 + Missense_Mutation SNP G G T TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr6:37446287G>T ENST00000373451.4 + 22 2420 c.2256G>T c.(2254-2256)agG>agT p.R752S NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 752 Interaction with POLR2A.|WW. mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 ACATCGTCAGGACAGTGAATG 0.602000 19 141 7.41877e-09 3.70648e-06 2.27731e-05 1 0 HNRNPH2 3188 broad.mit.edu 37 X 100667886 100667886 + Missense_Mutation SNP G G T TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chrX:100667886G>T ENST00000316594.5 + 2 988 c.910G>T c.(910-912)Gat>Tat p.D304Y NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4 NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1 P55795 HNRH2_HUMAN heterogeneous nuclear ribonucleoprotein H2 (H') 304 2 X 16 AA Gly-rich approximate repeats.|RRM 3. nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding breast(3)|large_intestine(2)|lung(6)|skin(1) 12 CACTGAGAATGATATTTATAA 0.448000 20 98 3.51602e-12 1.83648e-09 1.15919e-05 1 0 MED12 9968 broad.mit.edu 37 X 70342382 70342382 + Missense_Mutation SNP G G A TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chrX:70342382G>A ENST00000333646.6 + 9 1472 c.1273G>A c.(1273-1275)Gag>Aag p.E425K MED12_ENST00000374102.1_Missense_Mutation_p.E425K|MED12_ENST00000374080.3_Missense_Mutation_p.E425K NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 425 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GCGGGAGATCGAGCAGCAGAT 0.488000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 7 66 0 0 5.18039e-06 0 0 PRC1 9055 broad.mit.edu 37 15 91517847 91517847 + Silent SNP G G T TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr15:91517847G>T ENST00000361188.5 - 10 2529 c.1318C>A c.(1318-1320)Cga>Aga p.R440R PRC1_ENST00000361919.3_Silent_p.R440R|PRC1_ENST00000394249.3_Silent_p.R440R|PRC1_ENST00000442656.2_Silent_p.R399R|PRC1-AS1_ENST00000554388.1_RNA O43663 PRC1_HUMAN protein regulator of cytokinesis 1 440 Spectrin-fold. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) TTCTCCAATCGATGCATCTCC 0.443000 21 1398 1.49906e-05 0.00637988 1.49906e-05 1 0 KDM6B 23135 broad.mit.edu 37 17 7750643 7750643 + Missense_Mutation SNP C C T TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr17:7750643C>T ENST00000254846.5 + 10 1519 c.1130C>T c.(1129-1131)gCa>gTa p.A377V KDM6B_ENST00000448097.2_Missense_Mutation_p.A377V NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 377 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GTTTCACCAGCAGCAACCACC 0.662000 42 244 0 0 1.39061e-05 0 0 ERC1 23085 broad.mit.edu 37 12 1137146 1137146 + Missense_Mutation SNP G G A TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr12:1137146G>A ENST00000397203.2 + 2 483 c.77G>A c.(76-78)cGt>cAt p.R26H ERC1_ENST00000546231.2_Missense_Mutation_p.R26H|ERC1_ENST00000355446.5_Missense_Mutation_p.R26H|ERC1_ENST00000589028.1_Missense_Mutation_p.R26H|ERC1_ENST00000543086.3_Missense_Mutation_p.R26H|ERC1_ENST00000360905.4_Missense_Mutation_p.R26H Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 26 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) AGGCTTCCACGTTCCCCTCGC 0.572000 7 48 0 0 1.12685e-05 0 0 C21orf59 56683 broad.mit.edu 37 21 33976511 33976511 + Missense_Mutation SNP A A G TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr21:33976511A>G ENST00000382549.4 - 4 800 c.458T>C c.(457-459)gTt>gCt p.V153A C21ORF59_ENST00000607686.1_Silent_p.C130C|C21orf59_ENST00000540881.1_Missense_Mutation_p.V97A|C21orf59_ENST00000290155.3_Missense_Mutation_p.V153A P57076 CU059_HUMAN chromosome 21 open reading frame 59 153 cytosol|nucleus endometrium(2)|large_intestine(1)|prostate(1)|skin(1) 5 CATGGGGTAAACAATCATCAC 0.502000 24 59 0 0 3.83957e-06 0 0 FOLH1B 219595 broad.mit.edu 37 11 89392753 89392753 + RNA SNP A A C TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr11:89392753A>C ENST00000532352.1 + 0 576 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTCTCTACTCAGACCCTGCTG 0.453000 3 14 0 0 1.23904e-05 0 0 SDK1 221935 broad.mit.edu 37 7 3998595 3998595 + Silent SNP C C A TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr7:3998595C>A ENST00000404826.2 + 8 1322 c.1183C>A c.(1183-1185)Cgg>Agg p.R395R SDK1_ENST00000389531.3_Silent_p.R395R NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 395 Ig-like C2-type 4. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCCCGAGAGTCGGATTTCAGC 0.468000 14 139 9.31168e-06 0.00428002 9.31168e-06 1 0 PARP2 10038 broad.mit.edu 37 14 20813596 20813596 + Missense_Mutation SNP C C G TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr14:20813596C>G ENST00000527915.1 + 3 290 c.285C>G c.(283-285)gaC>gaG p.D95E RP11-203M5.2_ENST00000528210.1_RNA|PARP2_ENST00000250416.5_Missense_Mutation_p.D95E|PARP2_ENST00000429687.3_Missense_Mutation_p.D82E Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 95 protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity p.D46D(1) central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) CTCCTGTGGACCCAGAGTGTA 0.463000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 7 98 0 0 1.12685e-05 0 0 ZNF324B 388569 broad.mit.edu 37 19 58966439 58966439 + Missense_Mutation SNP T T C TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr19:58966439T>C ENST00000391696.1 + 3 1030 c.98T>C c.(97-99)tTc>tCc p.F33S ZNF324B_ENST00000336614.4_Intron|ZNF324B_ENST00000545523.1_Intron Q6AW86 Z324B_HUMAN zinc finger protein 324B 184 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CTCTTCTTTTTCCCTAAGCTT 0.607000 6 12 0 0 5.9392e-07 0 0 L1CAM 3897 broad.mit.edu 37 X 153130422 153130422 + Missense_Mutation SNP G G A TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chrX:153130422G>A ENST00000370060.1 - 23 3089 c.2900C>T c.(2899-2901)tCc>tTc p.S967F L1CAM_ENST00000361981.3_Missense_Mutation_p.S962F|L1CAM_ENST00000370055.1_Missense_Mutation_p.S962F|L1CAM_ENST00000370057.3_Missense_Mutation_p.S967F|L1CAM_ENST00000361699.4_Missense_Mutation_p.S967F|L1CAM_ENST00000543994.1_Missense_Mutation_p.S969F|L1CAM_ENST00000538883.1_Missense_Mutation_p.S969F NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 967 Fibronectin type-III 4. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AAGGTTGAAGGACAGTTGCCC 0.657000 36 239 0 0 2.86225e-05 0 0 SLC39A9 55334 broad.mit.edu 37 14 69922518 69922518 + Missense_Mutation SNP C C G TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr14:69922518C>G ENST00000031146.4 + 5 1108 c.430C>G c.(430-432)Cac>Gac p.H144D SLC39A9_ENST00000556605.1_Missense_Mutation_p.H210D|SLC39A9_ENST00000557046.1_Missense_Mutation_p.H187D|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000336643.5_Missense_Mutation_p.H210D Q9NUM3 S39A9_HUMAN solute carrier family 39, member 9 210 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) AATCAGAAAGCACTTGCTGGT 0.428000 7 36 0 0 2.0095e-06 0 0 DGAT2 84649 broad.mit.edu 37 11 75480152 75480152 + Missense_Mutation SNP G G A TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr11:75480152G>A ENST00000228027.7 + 1 376 c.116G>A c.(115-117)aGa>aAa p.R39K DGAT2_ENST00000605608.1_3'UTR|DGAT2_ENST00000376262.3_Missense_Mutation_p.R39K NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 39 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) GGGTCTGGGAGATGGGGTGAG 0.667000 42 280 0 0 2.47226e-05 0 0 KDM5B 10765 broad.mit.edu 37 1 202736112 202736112 + Missense_Mutation SNP G G C TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr1:202736112G>C ENST00000367265.3 - 5 1817 c.653C>G c.(652-654)tCt>tGt p.S218C KDM5B_ENST00000367264.2_Missense_Mutation_p.S218C NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 218 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 AGGCTGCACAGACTGCCTCTG 0.483000 6 34 0 0 5.9392e-07 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209212720 209212720 + Missense_Mutation SNP A A G TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr2:209212720A>G ENST00000264380.4 + 35 5505 c.5347A>G c.(5347-5349)Acc>Gcc p.T1783A NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1783 PIPK. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 CAAGGAGGGGACCGAGAATCA 0.443000 4 76 0 0 1.23904e-05 0 0 TMEM147 10430 broad.mit.edu 37 19 36036834 36036834 + Missense_Mutation SNP C C A TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr19:36036834C>A ENST00000222284.5 + 2 267 c.122C>A c.(121-123)aCc>aAc p.T41N TMEM147_ENST00000392205.1_Missense_Mutation_p.T41N|TMEM147_ENST00000392204.2_5'UTR|AD000090.2_ENST00000589137.1_RNA NM_032635.3 NP_116024.1 Q9BVK8 TM147_HUMAN transmembrane protein 147 41 endoplasmic reticulum membrane|integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCTGGAGTCACCTACCTCTTT 0.682000 5 38 1.23904e-05 0.00547608 1.23904e-05 1 0 GPSM3 63940 broad.mit.edu 37 6 32159488 32159488 + Missense_Mutation SNP G G T TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr6:32159488G>T ENST00000375040.3 - 3 735 c.343C>A c.(343-345)Cag>Aag p.Q115K GPSM3_ENST00000487761.1_Missense_Mutation_p.Q112K|GPSM3_ENST00000375043.3_Missense_Mutation_p.Q115K NM_001276501.1 NP_001263430.1 Q9Y4H4 GPSM3_HUMAN G-protein signaling modulator 3 115 GoLoco 2. signal transduction cytoplasm GTPase activator activity|protein binding large_intestine(1) 1 TGTCTTACCTGGTGACTGAGG 0.597000 16 433 3.52763e-06 0.001689 3.52763e-06 1 0 TTN 7273 broad.mit.edu 37 2 179614932 179614932 + Frame_Shift_Del DEL T T - TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr2:179614932delT ENST00000360870.5 - 46 12417 c.12195delA c.(12193-12195)cafs p.Q4065fs TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3454 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGCCTTTTGCTTGGTCAAACA 0.423 2 4 --- --- --- --- ZC2HC1A 51101 broad.mit.edu 37 8 79598774 79598775 + Frame_Shift_Del DEL AA AA - TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr8:79598774_79598775delAA ENST00000263849.4 + 4 385_386 c.283_284delAA c.(283-285)afs p.K95fs ZC2HC1A_ENST00000521176.1_3'UTR NM_016010.2 NP_057094.2 Q96GY0 F164A_HUMAN zinc finger, C2HC-type containing 1A 95 AAGAGCAGCTAAAGGCCTTGAT 0.376 2 4 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 5 8 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089302 61089302 + RNA DEL C C - rs80101907 TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr16:61089302delC ENST00000591758.1 - 0 566 GCttcttcttctttttttttt 0.244 2 4 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-D3-A2JB-06A-11D-A196-08 TCGA-D3-A2JB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d485de5-b864-412e-9632-01486f9c3f71 a3e70dee-f653-4d31-94ca-12ec9def742e g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 7 93 --- --- --- ---